Multiple bowel polyps
Gene: MLH1EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Biallelic causes polyposis; monoallelic also relevant as overlap between colorectal cancer and polyposis.Created: 29 Jan 2016, 4:37 p.m.
Ian Frayling (Cardiff University)
Only predisposes to multiple adenomas with biallelic mutations, i.e. Constitutional Mismatch Repair Disorder (CMMR-D)Created: 8 Dec 2015, 2:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
- Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’(C4CMMRD). Journal of Medical Genetics 2014
- 51: 355-365.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- Complete
- Publications
-
- Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’(C4CMMRD). Journal of Medical Genetics 2014
- 51: 355-365.
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Intellectual disability
- Inherited MMR deficiency (Lynch syndrome)
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited prostate cancer
- Bladder cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Fetal anomalies
- Inherited renal cancer
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Additional findings health related - adult specific
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Childhood solid tumours
- Additional findings health related
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MLH1 were set to Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’(C4CMMRD). Journal of Medical Genetics 2014; 51: 355-365.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MLH1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Multiple bowel polypspanel. Sources: Eligibility statement prior genetic testing